ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
30 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Hyperkalemic periodic paralysis

SLC34A1	(UniProt - OMIM)		SCN4A	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.63)	SCN4A

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Hyperkalemic periodic paralysis
	Synonym(s): (no synonyms)		Synonym(s): - Adynamia episodica hereditaria - Familial hyperPP - Familial hyperkalemic periodic paralysis - Gamstorp disease - Gamstorp episodic adynamy - HYPP - HyperKPP - HyperPP - Hyperkalemic PP - Primary hyperPP - Primary hyperkalemic periodic paralysis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C535409 / D020513

Hyperkalemic periodic paralysis
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Acute palsy - Areflexia / hyporeflexia - Autosomal dominant inheritance - Muscle weakness / flaccidity Frequent - Abnormal gait - Hyperkalemia - Myalgia / muscular pain - Myoclonus / fasciculations - Myotonia Occasional - Cardiac rhythm disorder / arrhythmia - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Death in infancy - Early death in adulthood - Encopresis / fecal incontinence - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Heart / cardiac failure - Hypertonia / spasticity / rigidity / stiffness - Hypokalemia - Hyponatremia - Intestinal transit disorder - Malignant hyperthermia - Muscle hypertrophy - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)